Shin yaronka yana gajiya koyaushe? Shin yana da ƙarancin sukari a jini? Wannan na iya faruwa ne saboda Ciwon Glycogen Storage Disease (GSD)

Shin ƙaramin yaronka yana jin gajiya da kasala koyaushe? Shin yaronka yana tsaye a gefe kaɗan lokacin da sauran yara masu shekaru ɗaya suke gudu suna wasa? Ko kuma yaronka ya fara yin fari, gumi, da rawar jiki yayin cin abinci? A matsayinka na iyaye, abu ne na al'ada a gare ka ka ji tsoro sosai idan ka ga waɗannan abubuwan. Ko da yake akwai dalilai da yawa na irin waɗannan alamun, a yau za mu yi magana game da wata cuta mai matuƙar wuya amma mai matuƙar muhimmanci wadda ke haifar da irin waɗannan alamun. Wato Cutar Glycogen Storage Disease, ko (GSD) a takaice.

A taƙaice dai, menene Cutar Ajiya ta Glycogen (GSD)?

To, bari mu fahimci wannan a taƙaice. Ka yi tunanin jikinmu kamar mota ne. Mota tana buƙatar man fetur don ta yi aiki. Hakazalika, jikinmu yana buƙatar kuzari don yin duk waɗannan abubuwa, don gudu, tsalle, tunani, da addu'a. Babban tushen kuzari a jikinmu shine glucose , wanda shine kawai sukari. Muna samun wannan glucose daga abincin carbohydrate da muke ci, kamar shinkafa, burodi, da dankali.

Yanzu, idan muka ci abinci, jikinmu yana samun glucose fiye da yadda yake buƙata don kuzari a wannan lokacin. To me jikinmu mai wayo yake yi? Yana adana wannan ƙarin glucose don amfani daga baya. Kamar ajiye wutar lantarki a wayarmu ne. Wannan hanyar adana glucose ana kiranta glycogen . Wannan glycogen galibi ana adana shi a cikin hanta da tsokoki .

Idan ba mu ci abinci ba, ko kuma idan muka kashe kuzari mai yawa, kamar lokacin motsa jiki, jikinmu yana mayar da wanda ya adana glycogen zuwa glucose kuma yana amfani da shi azaman makamashi.

Ga wannan tsari gaba ɗaya, wato, canza glucose zuwa glycogen da glycogen zuwa glucose, jikinmu yana buƙatar wani nau'in furotin na musamman. Muna kiransu enzymes . Kamar samun ma'aikata don yin aiki a masana'anta ne.

Cutar Ajiye Glycogen (GSD) yanayi ne da ke faruwa lokacin da ɗaya ko fiye daga cikin waɗannan enzymes suka ɓace ko kuma ba sa aiki yadda ya kamata a jikinmu. Wannan yana nufin cewa jiki ba zai iya adana glycogen yadda ya kamata ko amfani da glycogen da aka adana lokacin da ake buƙata ba. Wannan na iya haifar da matsaloli kamar ƙarancin matakan sukari a jini (hypoglycemia) da raunin tsoka.

Nau'ikan GSD nawa ne?

Eh. Kamar yadda muka tattauna a baya, akwai nau'ikan enzymes da yawa da ke da hannu a cikin metabolism na glycogen. Don haka, akwai nau'ikan GSD da yawa dangane da ƙarancin kowanne daga cikin waɗannan enzymes. An gano nau'ikan sama da 19 zuwa yanzu. Duk da cewa ba mu san komai game da su ba, muna da kyakkyawar fahimtar wasu manyan nau'ikan.

Waɗannan nau'ikan GSD galibi suna shafar hanta ko tsokoki.Amma wasu nau'ikan kuma na iya haifar da matsaloli a wasu sassan jiki. Likitoci suna kiran waɗannan nau'ikan da sunan enzyme ɗin da ke cikin ko masanin kimiyyar da ya fara gano cutar. Daga cikin waɗannan, mafi yawan su shine GSD type I (GSD type I), wanda kuma aka sani da cutar von Gierke.

Mene ne manyan alamomin ciwon GSD? Ta yaya za mu gane shi?

Alamomin GSD na iya bambanta dangane da nau'in cutar har ma tsakanin mutanen da ke da nau'in cutar iri ɗaya. Nau'in GSD da aka fi sani, nau'in I, yawanci yakan fara bayyana ne lokacin da jariri ya kai watanni uku zuwa huɗu . Duk da haka, wasu nau'ikan na iya bayyana da alamun cutar daga baya, wani lokacin ma a lokacin ƙuruciya.

Manyan alamomi guda biyu kuma mafi yawansu sune:

1. Ƙarancin matakan sukari a jini (hypoglycemia)

2. Gajiya cikin sauƙi yayin motsa jiki ko wasa (rashin jure motsa jiki)

Bari mu duba waɗannan alamomin dalla-dalla.

Me yasa GSD ke tasowa? Shin cuta ce ta gado?

Eh, GSD cuta ce ta gado gaba ɗaya. Wannan yana nufin cewa cutar tana faruwa ne sakamakon maye gurbi a cikin kwayoyin halittar da aka gada daga iyaye zuwa ga yara.

Yawancin cututtukan GSD ana gadon su ne ta hanyar autosomal recessive pattern. A taƙaice dai, wannan yana nufin cewa domin yaro ya kamu da cutar, dole ne iyaye biyu su gaji kwayar halittar da aka canza don cutar. Idan kwayar halittar ta gaji daga iyaye ɗaya kawai, yaron zai zama mai ɗauke da cutar kuma ba zai nuna alamun cutar ba.

Duk da haka, wasu nau'ikan da ba kasafai ake samun su ba, kamar GSD nau'in IX, ana gadonsu a cikin wani tsari da ake kira gado mai alaƙa da X. Wannan yana nufin cewa kwayar halittar cutar tana kan kwayar halittar X. Idan yaro ya gaji wannan kwayar halitta, tabbas zai sami alamun cutar.

Ta yaya likita yake gano wannan cuta daidai?

Saboda ciwon GSD ba kasafai ake samunsa ba, yana iya ɗaukar lokaci kafin a gano cutar. Likitan zai fara buƙatar tabbatar da cewa babu wasu cututtuka da aka saba gani. Bayan ya yi tambaya game da alamun ciwon da yaronka ke da shi da kuma duba lafiyarsa, likita zai ba da shawarar yin gwaje-gwaje da dama.

Waɗannan na iya haɗawa da:

• Gwajin sukari na jini na azumi: Duba matakan sukari na jini kafin karin kumallo. Idan matakin sukari ya yi ƙasa sosai, yana iya zama alamar GSD.
• Gwajin jinin Ketone: Idan jiki ba zai iya amfani da glucose don makamashi ba, yana ƙona kitse don makamashi. A wannan lokacin, ana samar da sinadarai da ake kira ketones. Matakan Ketone a cikin jini na iya ƙaruwa a cikin yara masu fama da GSD.
• Duba cholesterol a jini (Lipid panel) da matakan uric acid: Waɗannan matakan galibi suna ƙaruwa a cikin yara masu fama da GSD.
• Gwaje-gwajen aikin hanta: Waɗannan gwaje-gwajen suna taimakawa wajen tantance ko hanta ta lalace.
• Duban dan tayi na ciki: Wannan yana taimakawa wajen tantance ko hanta ta girma (hepatomegaly).
• Gwajin kwayoyin halitta: Wannan ita ce hanya mafi kyau ta tabbatar da cutar. Ana ɗaukar samfurin jini don duba ko akwai sauye-sauye a cikin kwayoyin halittar da ke samar da enzymes da suka shafi GSD.

A wasu lokuta, domin a tabbatar da ganewar cutar 100%, likita zai iya ba da shawarar a ɗauki ƙaramin yanki na nama daga hanta ko tsoka don a duba shi (biopsy) .

Wadanne magunguna ake amfani da su don magance wannan? Shin za a iya warkar da shi gaba ɗaya?

Abin takaici, har yanzu babu maganin GSD. Amma kada ku damu.Akwai magunguna masu tasiri sosai waɗanda za su iya sarrafa alamun cutar kuma su taimaki yaron ya rayu rayuwa ta yau da kullun. Hanyoyin magani sun bambanta dangane da nau'in cutar.

Babban burin shine a hana matakan sukari na jini raguwa cikin haɗari da kuma kiyaye su a matakin da ya dace.

Ga wasu hanyoyin magani:

1. A ci abinci akai-akai: Musamman yara ƙanana, suna ƙoƙarin kiyaye matakan sukari a cikin jininsu ta hanyar ciyar da su duk bayan 'yan awanni.

2. Amfani da Sitacin Masara Mara Dafawa: Wannan hanya ce mai matuƙar muhimmanci wajen magance matsalar GSD. Sitacin Masara wani sinadari ne mai rikitarwa wanda yake da wahalar narkewar jikinmu. Saboda haka, idan aka narkar da ƙaramin sitacin masara a cikin ruwa aka sha, yana fitar da glucose a hankali cikin jini. Wannan zai iya sa matakin sukarin jini ya daidaita na tsawon awanni da yawa. Wannan hanyar tana da matuƙar amfani wajen hana ƙarancin sukari a cikin jini musamman da daddare .

3. Maganin matsalar ƙarancin sukari a jiki nan take: Da zarar alamun rashin sukari a jiki suka bayyana, ya kamata a ba da allunan glucose ko abin sha mai sukari don dawo da matakan sukari cikin sauri. Jinkirin hakan na iya haifar da mummunan yanayi kamar farfadiya.

4. Maganin wasu matsaloli: Ga cututtuka kamar yawan cholesterol (hyperlipidemia) da yawan uric acid (hyperuricemia), likita zai rubuta magungunan da ake buƙata (misali allopurinol, statins).

5. Maganin Sauya Enzyme (ERT): Ga wasu nau'ikan GSD, kamar cutar Pompe, akwai magani wanda ke maye gurbin enzyme ɗin da ya ɓace ta hanyar jiko na IV. Har yanzu ana nazarin wannan.

6. Dashen Hanta: A lokuta inda hanta ta lalace sosai saboda GSD, dashen hanta na iya zama dole a matsayin mafita ta ƙarshe.

Wadanne matsaloli ne za su iya tasowa yayin rayuwa da wannan yanayin?

Idan ba a gano cutar da wuri ba kuma ba a kula da ita yadda ya kamata ba, matsaloli daban-daban na iya faruwa. Waɗannan kuma sun bambanta dangane da nau'in cutar. Misali, nau'in GSD na I wanda ba a yi masa magani ba na iya haifar da matsaloli kamar:

• Raunana ƙasusuwa da kuma sauƙin karyewa (osteoporosis)
• Jinkirin balaga
• Gout
• Cutar koda
• Ciwon hanta mara ciwon daji (adenomas na hanta)
• Ciwon Kwai na Polycystic (PCOS)
• Yawan shan sukari a jini na iya shafar aikin kwakwalwa.

Amma ku tuna, da yawa daga cikin waɗannan matsalolin za a iya hana su ta hanyar gano cutar da wuri, magani mai kyau, da kuma kula da ita.

Menene tsawon rayuwar wanda ke da GSD?

Wannan ya dogara da nau'in cutar, yadda aka gano ta da wuri, da kuma yadda ake kula da ita yadda ya kamata. Wasu nau'ikan cutar masu tsanani na iya zama masu mutuwa a jarirai. Amma a yawancin nau'ikan, tare da magani mai kyau, ana iya samun tsawon rai na yau da kullun. Likitanka zai iya ba ka cikakken bayani game da yanayin ɗanka.

Yaushe ya kamata mu ga likita?

Idan yaronka yana ci gaba da nuna alamun ƙarancin sukari a cikin jini kamar yadda muka tattauna a baya (girgiza, gumi, faɗuwa), ko kuma idan kana jin cewa yaronka ba ya girma sosai ko kuma yana da rauni a tsokoki, tabbatar da ganin likitan yara.

Domin ciwon GSD yana da sarkakiya, yana da muhimmanci a nemi magani daga likita wanda ke da ƙwarewa ta musamman a wannan fanni. Ƙungiyar likitocin yaronka za ta tallafa maka ta kowace hanya mai yiwuwa a wannan tafiyar.